A54V (p.Ala54Val) variant of NTRK2 (Q16620)
A54V (p.Ala54Val) in NTRK2 (Q16620) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- gnomAD 9-84670909-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.71
- CADD 24.00
- PolyPhen-2 0.72
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available